ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2308A>G (p.Met770Val)

gnomAD frequency: 0.00001  dbSNP: rs1372796820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867809 SCV002131427 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 770 of the STAT3 protein (p.Met770Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1369061). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT3 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004040461 SCV004959697 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.2308A>G (p.M770V) alteration is located in exon 24 (coding exon 23) of the STAT3 gene. This alteration results from a A to G substitution at nucleotide position 2308, causing the methionine (M) at amino acid position 770 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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